Xq;Yq translocation in a patient with premature ovarian insufficiency.
10.3760/cma.j.cn511374-20191001-00505
- Author:
Suting YANG
1
;
Yanan ZHANG
;
Jiancheng HU
;
Rong HU
;
Zhengjun JIA
;
Hui XI
;
Hua WANG
Author Information
1. Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China. wanghua213@aliyun.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(9):942-945
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient with premature ovarian insufficiency.
METHODS:Chromosomal G-banding and C-banding, single nucleotide polymorphism array (SNP-array), fluorescence in situ hybridization (FISH) and Y chromosome microdeletion assay were used for the analysis.
RESULTS:With the combined techniques, the patient was found to carry a Xq;Yq translocation, with a karyotype of 46,X,der(X)t(X;Y)(q25;q12).ish der(X)(Tel XYp+,Tel XYq+,Yq12+).
CONCLUSION:Unbalanced Xq;Yq translocation probably underlay the premature ovarian insufficiency in this patient.
